Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P56851 (epididymal)
 11,273 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Common manifestations of the von Hippel-Lindau syndrome, an autosomally dominant inherited cancer-prone disorder, include retinal angiomatosis, hemangioblastoma of the central nervous system, renal cysts, renal cancer, pheochromocytoma, and epididymal cystadenoma. Multiple cysts and microcystic (serous) cystadenomas of the pancreas have also been reported occasionally in patients afflicted with this syndrome. In the large Freiburg study of the von Hippel-Lindau syndrome composed of 66 affected individuals, pancreatic lesions were systematically studied. Fifty-five living individuals were examined by abdominal ultrasound imaging. Abnormal findings were confirmed by computed tomographic scan and/or magnetic resonance imaging. For an additional 11 decreased patients autopsy data were available. Cystic lesions of the pancreas were found in 10 patients (15%). One of these patients presented with multiple pancreatic cysts as the only manifestation of the syndrome. In one patient, a malignant islet-cell tumor was found at autopsy. Because multiple pancreatic cysts did not cause major clinical symptoms and because follow-up examinations over an average period of 5 years did not show significant progression of the lesions, it is concluded that these patients usually do not require surgical treatment. Abdominal ultrasound screening is recommended for patients at risk as a tool to identify potential von Hippel-Lindau syndrome gene carriers with pancreatic manifestations. In all patients with multiple pancreatic cysts, the von Hippel-Lindau syndrome should be included in the differential diagnosis.
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PMID:Pancreatic lesions in the von Hippel-Lindau syndrome. 206 22

A case of bilateral epididymal metastases appearing sixteen years after nephrectomy for renal cell carcinoma is reported. A literature review of intrascrotal metastases from renal cancer reveals that they are uncommon. The possible mechanisms of spread are discussed.
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PMID:Late intrascrotal metastases from renal cell carcinoma. 675 56

After a decade of intensive clinical and molecular genetic efforts the von Hippel-Lindau (VHL) gene was cloned in 1993. The open reading frame encodes the putative protein of 284 amino acids. A large number of different mutations have been identified so far, including single base mutations, deletions, rearrangements and more complex mutations. So far, in about 75% of the VHL families germline mutations were detected. Geno-phenotypic comparison has revealed specific mutations with distinct manifestation patterns. Not all of the 6 classical lesions (hemangioblastoma of the CNS, retinal angiomatosis, pancreatic cysts, renal cysts and carcinoma, pheochromocytoma and epididymal cystadenoma) are present in VHL families. Pedigrees with pheochromocytoma but without renal cancer in general have point mutations. These recent results provide insight in the pathogenesis of a multiorgan cancer susceptibility tumor suppressor gene and allow determination of carrier status.
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PMID:Von Hippel-Lindau syndrome. 767 Jun 59

Von Hippel-Lindau (VHL) disease is a genetic disease predisposing to the development of various tumours (haemangioblastomas of the neuraxis and retina, tumours of the membranous labyrinth, renal clear cell carcinomas or cysts, phaeochromocytomas, pancreatic cysts or tumours, epididymal cystadenomas), affecting one in 36,000 people. Renal cancer constitutes one of the main causes of death. The VHL gene, situated at 3p25-26, is a tumour suppressor gene which plays a major role in regulation of VEGF transcription and expression. The germ cell mutation can be identified in 70% of patients. Somatic mutations of the VHL gene are also responsible for sporadic clear cell carcinomas. In the urological setting, any patient presenting with "sporadic" bilateral clear cell renal cancer or detected at an early age, or bilateral epididymal cystadenomas, should be investigated for the presence of VHL disease.
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PMID:[Von Hippel-Lindau disease and renal cancer: 10 years of genetic progress. GEFVHL (French-Speaking Study Group on von Hippel-Lindau disease)]. 968 63

Urogenital tuberculosis does not have pathognomonic symptoms, so diagnostic errors are quite common. This systematic review of literature was conducted to identify the causes and estimate the incidence of erroneous diagnoses. We critically evaluated some articles in which the authors describe observations of urogenital tuberculosis as rare and unusual because they never encountered this disease, but in fact that were typical manifestations of genitourinary tuberculosis. The authors analyzed and illustrated the features of urinary tuberculosis in patients with pulmonary tuberculosis, differential diagnosis of urogenital tuberculosis and kidney cancer and male genitourinary organs, described errors in the diagnosis of urethral, testicular, penile, prostatic and epididymal tuberculosis. Urolithiasis was described as a mask and concomitant disease of urogenital tuberculosis. Really rare forms of bladder tuberculosis as the cause of diagnostic errors are described. Examples of fatal outcomes of urogenital tuberculosis are given. The authors analyzed cases of granulomatous interstitial nephritis due to tuberculosis infection and tuberculosis of the renal artery as the cause of renovascular hypertension. The most common causes of late diagnosis of urogenital tuberculosis are the absence of a typical pattern and the tendency to manifest under the guise of other diseases.
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PMID:[Masks of urogenital tuberculosis as the cause of diagnostic errors]. 2913 52